Incidental Mutation 'R4819:Efs'
ID |
370074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efs
|
Ensembl Gene |
ENSMUSG00000022203 |
Gene Name |
embryonal Fyn-associated substrate |
Synonyms |
|
MMRRC Submission |
042000-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R4819 (G1)
|
Quality Score |
91 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55153992-55163583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55154610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 450
(E450G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022813]
[ENSMUST00000050772]
[ENSMUST00000227037]
[ENSMUST00000227587]
[ENSMUST00000228495]
[ENSMUST00000228588]
[ENSMUST00000227880]
[ENSMUST00000228119]
[ENSMUST00000231305]
|
AlphaFold |
Q64355 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022813
AA Change: E543G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022813 Gene: ENSMUSG00000022203 AA Change: E543G
Domain | Start | End | E-Value | Type |
SH3
|
8 |
67 |
5.15e-19 |
SMART |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
255 |
273 |
N/A |
INTRINSIC |
low complexity region
|
305 |
325 |
N/A |
INTRINSIC |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
Pfam:DUF3513
|
370 |
555 |
9.2e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050772
|
SMART Domains |
Protein: ENSMUSP00000049676 Gene: ENSMUSG00000022199
Domain | Start | End | E-Value | Type |
Pfam:Sugar_tr
|
1 |
370 |
1.8e-17 |
PFAM |
Pfam:MFS_1
|
211 |
394 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226467
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226718
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227037
AA Change: E450G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228495
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228249
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228119
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231305
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013] PHENOTYPE: Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,442 (GRCm39) |
L444F |
possibly damaging |
Het |
Akap8 |
G |
A |
17: 32,531,279 (GRCm39) |
R378W |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,607,270 (GRCm39) |
R693W |
probably damaging |
Het |
As3mt |
G |
T |
19: 46,695,968 (GRCm39) |
|
probably benign |
Het |
Atp6v1e2 |
A |
G |
17: 87,251,966 (GRCm39) |
V144A |
probably benign |
Het |
Bfar |
C |
T |
16: 13,505,331 (GRCm39) |
Q114* |
probably null |
Het |
Casd1 |
C |
T |
6: 4,621,225 (GRCm39) |
A261V |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,696 (GRCm39) |
I440K |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,672,339 (GRCm39) |
Y2910* |
probably null |
Het |
Csl |
A |
G |
10: 99,593,944 (GRCm39) |
F374L |
possibly damaging |
Het |
Dctn1 |
G |
A |
6: 83,167,501 (GRCm39) |
R275H |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,729,713 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,007,916 (GRCm39) |
I117V |
probably benign |
Het |
Edc3 |
T |
A |
9: 57,655,680 (GRCm39) |
C477S |
possibly damaging |
Het |
Fcrla |
T |
A |
1: 170,748,508 (GRCm39) |
I212F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,786 (GRCm39) |
I4840V |
probably benign |
Het |
Gpam |
T |
A |
19: 55,066,773 (GRCm39) |
I581F |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,458,358 (GRCm39) |
D45G |
probably damaging |
Het |
Heca |
A |
G |
10: 17,783,820 (GRCm39) |
Y478H |
probably damaging |
Het |
Hspa9 |
C |
T |
18: 35,072,441 (GRCm39) |
M561I |
probably damaging |
Het |
Hyal6 |
T |
A |
6: 24,734,965 (GRCm39) |
Y299* |
probably null |
Het |
Iho1 |
A |
G |
9: 108,283,877 (GRCm39) |
V189A |
probably benign |
Het |
Ik |
T |
A |
18: 36,886,310 (GRCm39) |
|
probably null |
Het |
Khsrp |
A |
G |
17: 57,330,360 (GRCm39) |
S582P |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,719,979 (GRCm39) |
T564A |
unknown |
Het |
Lig4 |
A |
G |
8: 10,021,885 (GRCm39) |
S632P |
probably benign |
Het |
Med1 |
C |
T |
11: 98,046,258 (GRCm39) |
|
probably benign |
Het |
Mgat3 |
T |
A |
15: 80,096,550 (GRCm39) |
I459N |
probably damaging |
Het |
Mkln1 |
A |
T |
6: 31,451,421 (GRCm39) |
Q454L |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,567,803 (GRCm39) |
E591G |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,199,484 (GRCm39) |
L1364Q |
probably damaging |
Het |
Oas1d |
T |
C |
5: 121,053,780 (GRCm39) |
V80A |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,929,674 (GRCm39) |
D5180E |
probably damaging |
Het |
Pax6 |
G |
A |
2: 105,522,622 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
C |
10: 74,160,221 (GRCm39) |
N446T |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,581,969 (GRCm39) |
F922L |
probably benign |
Het |
Ptpn4 |
G |
T |
1: 119,587,580 (GRCm39) |
T921K |
probably benign |
Het |
Selenov |
A |
G |
7: 27,989,746 (GRCm39) |
|
probably null |
Het |
Tmem100 |
A |
G |
11: 89,926,271 (GRCm39) |
T33A |
probably benign |
Het |
Tmem59 |
C |
T |
4: 107,044,878 (GRCm39) |
Q66* |
probably null |
Het |
Trav21-dv12 |
T |
A |
14: 54,114,070 (GRCm39) |
Y63* |
probably null |
Het |
Trim66 |
G |
T |
7: 109,056,793 (GRCm39) |
H1121Q |
probably damaging |
Het |
Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
Ttc17 |
G |
A |
2: 94,194,955 (GRCm39) |
P520L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,622,093 (GRCm39) |
V15483E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,882,721 (GRCm39) |
N98K |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
Zfp281 |
A |
G |
1: 136,553,448 (GRCm39) |
H142R |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,060,044 (GRCm39) |
R1190L |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,231 (GRCm39) |
H323L |
probably damaging |
Het |
|
Other mutations in Efs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02176:Efs
|
APN |
14 |
55,158,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02720:Efs
|
APN |
14 |
55,157,172 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02752:Efs
|
APN |
14 |
55,154,880 (GRCm39) |
missense |
probably damaging |
0.96 |
R0129:Efs
|
UTSW |
14 |
55,154,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Efs
|
UTSW |
14 |
55,157,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R1927:Efs
|
UTSW |
14 |
55,154,620 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2327:Efs
|
UTSW |
14 |
55,154,961 (GRCm39) |
missense |
probably benign |
0.01 |
R3431:Efs
|
UTSW |
14 |
55,157,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R3432:Efs
|
UTSW |
14 |
55,157,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R3615:Efs
|
UTSW |
14 |
55,157,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R3616:Efs
|
UTSW |
14 |
55,157,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R3756:Efs
|
UTSW |
14 |
55,157,879 (GRCm39) |
splice site |
probably benign |
|
R3945:Efs
|
UTSW |
14 |
55,158,108 (GRCm39) |
splice site |
probably benign |
|
R4448:Efs
|
UTSW |
14 |
55,157,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Efs
|
UTSW |
14 |
55,157,801 (GRCm39) |
missense |
probably damaging |
0.99 |
R5656:Efs
|
UTSW |
14 |
55,154,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R5946:Efs
|
UTSW |
14 |
55,156,951 (GRCm39) |
splice site |
probably null |
|
R6054:Efs
|
UTSW |
14 |
55,158,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R7457:Efs
|
UTSW |
14 |
55,157,451 (GRCm39) |
missense |
probably benign |
|
R7822:Efs
|
UTSW |
14 |
55,154,907 (GRCm39) |
missense |
probably benign |
0.09 |
R7970:Efs
|
UTSW |
14 |
55,157,960 (GRCm39) |
critical splice donor site |
probably null |
|
R8166:Efs
|
UTSW |
14 |
55,158,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8347:Efs
|
UTSW |
14 |
55,157,241 (GRCm39) |
missense |
probably benign |
0.28 |
R8896:Efs
|
UTSW |
14 |
55,157,756 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9438:Efs
|
UTSW |
14 |
55,156,868 (GRCm39) |
missense |
|
|
R9703:Efs
|
UTSW |
14 |
55,156,871 (GRCm39) |
missense |
possibly damaging |
0.88 |
X0028:Efs
|
UTSW |
14 |
55,158,078 (GRCm39) |
nonsense |
probably null |
|
Z1176:Efs
|
UTSW |
14 |
55,157,793 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATGCCTGCCTGGACAAAG -3'
(R):5'- GTTTGTTGGAGACACCCTAGG -3'
Sequencing Primer
(F):5'- TGGCTCATACAAAAGGCAGTAG -3'
(R):5'- AGACACCCTAGGCCGGC -3'
|
Posted On |
2016-02-04 |